| Year |
Citation |
Score |
| 2024 |
Dutta D, Kanca O, Shridharan RV, Marcogliese PC, Steger B, Morimoto M, Frost FG, Macnamara E, Wangler MF, Yamamoto S, Jenny A, Adams D, Malicdan MC, Bellen HJ. Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability. Proceedings of the National Academy of Sciences of the United States of America. 121: e2322582121. PMID 38381787 DOI: 10.1073/pnas.2322582121 |
0.626 |
|
| 2023 |
Dutta D, Kanca O, Byeon SK, Marcogliese PC, Zuo Z, Shridharan RV, Park JH, Lin G, Ge M, Heimer G, Kohler JN, Wheeler MT, Kaipparettu BA, Pandey A, Bellen HJ. A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nature Metabolism. PMID 37653044 DOI: 10.1038/s42255-023-00873-0 |
0.771 |
|
| 2022 |
Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, Glažar P, Zhang X, Biswas P, Caporale JR, Rajewsky N, Bickle M, Wein N, Bellen HJ, Likhite S, ... Marcogliese PC, et al. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy. Cell Reports. 41: 111751. PMID 36476864 DOI: 10.1016/j.celrep.2022.111751 |
0.813 |
|
| 2022 |
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, ... ... Marcogliese PC, et al. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Hgg Advances. 4: 100157. PMID 36408368 DOI: 10.1016/j.xhgg.2022.100157 |
0.54 |
|
| 2022 |
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38: 110517. PMID 35294868 DOI: 10.1016/j.celrep.2022.110517 |
0.743 |
|
| 2022 |
Lu S, Hernan R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz MM, Oztoprak U, de Baaij JHF, Ivanisevic J, McGinnis E, et al. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. American Journal of Human Genetics. PMID 35240055 DOI: 10.1016/j.ajhg.2022.01.020 |
0.814 |
|
| 2022 |
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, et al. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila. Human Molecular Genetics. PMID 35234901 DOI: 10.1093/hmg/ddac053 |
0.78 |
|
| 2022 |
Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, ... ... Marcogliese PC, et al. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum (London, England). PMID 35218524 DOI: 10.1007/s12311-022-01379-3 |
0.833 |
|
| 2022 |
Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, et al. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 8: eabl5613. PMID 35044823 DOI: 10.1126/sciadv.abl5613 |
0.772 |
|
| 2021 |
Moulton MJ, Barish S, Ralhan I, Chang J, Goodman LD, Harland JG, Marcogliese PC, Johansson JO, Ioannou MS, Bellen HJ. Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease-associated genes. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 34949639 DOI: 10.1073/pnas.2112095118 |
0.786 |
|
| 2021 |
Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PC, Deal SL, Neely GG, Yamamoto S. TM2D genes regulate Notch signaling and neuronal function in Drosophila. Plos Genetics. 17: e1009962. PMID 34905536 DOI: 10.1371/journal.pgen.1009962 |
0.798 |
|
| 2020 |
Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, ... Marcogliese PC, et al. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Molecular Genetics & Genomic Medicine. e1542. PMID 33350591 DOI: 10.1002/mgg3.1542 |
0.655 |
|
| 2020 |
Ravenscroft TA, Janssens J, Lee PT, Tepe B, Marcogliese PC, Makhzami S, Holmes TC, Aerts S, Bellen HJ. voltage-gated sodium channels are only expressed in active neurons and are localized to distal axonal initial segment-like domains. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 32928889 DOI: 10.1523/Jneurosci.0142-20.2020 |
0.777 |
|
| 2020 |
Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, et al. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics. PMID 32356556 DOI: 10.1093/Hmg/Ddaa081 |
0.787 |
|
| 2020 |
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, et al. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. American Journal of Human Genetics. PMID 32330417 DOI: 10.1016/J.Ajhg.2020.04.001 |
0.814 |
|
| 2020 |
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. PMID 32169171 DOI: 10.1016/J.Neuron.2020.02.021 |
0.771 |
|
| 2019 |
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8 |
0.778 |
|
| 2019 |
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. American Journal of Human Genetics. PMID 31607425 DOI: 10.1016/J.Ajhg.2019.09.013 |
0.805 |
|
| 2019 |
Shutinoski B, Hakimi M, Harmsen IE, Lunn M, Rocha J, Lengacher N, Zhou YY, Khan J, Nguyen A, Hake-Volling Q, El-Kodsi D, Li J, Alikashani A, Beauchamp C, Majithia J, ... ... Marcogliese PC, et al. alleles modulate inflammation during microbial infection of mice in a sex-dependent manner. Science Translational Medicine. 11. PMID 31554740 DOI: 10.1126/Scitranslmed.Aas9292 |
0.577 |
|
| 2019 |
Yang J, Kim KS, Iyirhiaro GO, Marcogliese PC, Callaghan SM, Qu D, Kim WJ, Slack RS, Park DS. DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress. Cell Death & Disease. 10: 135. PMID 30755590 DOI: 10.1038/S41419-019-1354-2 |
0.588 |
|
| 2018 |
Lin G, Wang L, Marcogliese PC, Bellen HJ. Sphingolipids in the Pathogenesis of Parkinson's Disease and Parkinsonism. Trends in Endocrinology and Metabolism: Tem. PMID 30528460 DOI: 10.1016/J.Tem.2018.11.003 |
0.643 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM, Ortiz D, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. 103: 456. PMID 30193138 DOI: 10.1016/j.ajhg.2018.08.010 |
0.759 |
|
| 2018 |
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, et al. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics. PMID 30057031 DOI: 10.1016/J.Ajhg.2018.07.006 |
0.809 |
|
| 2018 |
Kim KS, Marcogliese PC, Yang J, Callaghan SM, Resende V, Abdel-Messih E, Marras C, Visanji NP, Huang J, Schlossmacher MG, Trinkle-Mulcahy L, Slack RS, Lang AE, Park DS. Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson's disease. Proceedings of the National Academy of Sciences of the United States of America. PMID 29760073 DOI: 10.1073/Pnas.1718946115 |
0.557 |
|
| 2017 |
Marcogliese PC, Abuaish S, Kabbach G, Abdel-Messih E, Seang S, Li G, Slack RS, Emdadul Haque M, Venderova K, Park DS. LRRK2(I2020T) Functional Genetic Interactors that Modify Eye Degeneration and Dopaminergic Cell Loss in Drosophila. Human Molecular Genetics. PMID 28158614 DOI: 10.1093/Hmg/Ddx030 |
0.611 |
|
| 2015 |
Qu D, Hage A, Don-Carolis K, Huang E, Joselin A, Safarpour F, Marcogliese PC, Rousseaux MW, Hewitt SJ, Huang T, Im DS, Callaghan S, Dewar-Darch D, Figeys D, Slack RS, et al. Bag2 Mediated Regulation of Pink1 is Critical for Mitochondrial Translocation of Parkin and Neuronal Survival. The Journal of Biological Chemistry. PMID 26538564 DOI: 10.1074/Jbc.M115.677815 |
0.796 |
|
| 2014 |
Sanchez G, Varaschin RK, Büeler H, Marcogliese PC, Park DS, Trudeau LE. Unaltered striatal dopamine release levels in young Parkin knockout, Pink1 knockout, DJ-1 knockout and LRRK2 R1441G transgenic mice. Plos One. 9: e94826. PMID 24733019 DOI: 10.1371/Journal.Pone.0094826 |
0.608 |
|
| 2013 |
Rousseaux MWC, Marcogliese PC, Qu D, Hewitt SJ, Seang S, Kim RH, Slack RS, Schlossmacher MG, Lagace DC, Mak TW, Park DS. Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease (Proceedings of the National Academy of Sciences of the United States of America (2012) 109, 39 (15918-15923)) Proceedings of the National Academy of Sciences of the United States of America. 110: 11212. DOI: 10.1073/pnas.1310560110 |
0.505 |
|
| 2012 |
Rousseaux MW, Marcogliese PC, Qu D, Hewitt SJ, Seang S, Kim RH, Slack RS, Schlossmacher MG, Lagace DC, Mak TW, Park DS. Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease. Proceedings of the National Academy of Sciences of the United States of America. 109: 15918-23. PMID 23019375 DOI: 10.1073/Pnas.1205102109 |
0.789 |
|
| 2010 |
Aleyasin H, Rousseaux MW, Marcogliese PC, Hewitt SJ, Irrcher I, Joselin AP, Parsanejad M, Kim RH, Rizzu P, Callaghan SM, Slack RS, Mak TW, Park DS. DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway. Proceedings of the National Academy of Sciences of the United States of America. 107: 3186-91. PMID 20133695 DOI: 10.1073/Pnas.0914876107 |
0.769 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2024 |
Her Y, Pascual DM, Goldstone-Joubert Z, Marcogliese PC. Variant functional assessment in Drosophila by overexpression: what can we learn? Genome. PMID 38412472 DOI: 10.1139/gen-2023-0135 |
0.12 |
|
| Hide low-probability matches. |